Rescue of human RET gene expression by sodium butyrate: a novel powerful tool for molecular studies in Hirschsprung disease

Por Griseri, P, Patrone, G, Puppo, F, Romeo, G, Ravazzolo, R, Ceccherini, I
Publicado em 2003

Pernicious anaemia followed by autoimmune haemolytic anaemia.

Por Salvidio, E., Venzano, C., Boccaccio, P., Ravazzolo, R., Gaetani, G. F., Ajmar, F.
Publicado em 1975

Molecular characterisation of a supernumerary ring chromosome in a patient with VATER association

Por CINTI, R., PRIOLO, M., LERONE, M., GIMELLI, G., SERI, M., SILENGO, M., RAVAZZOLO, R.
Publicado em 2001

A polymorphic variant inside the osteopontin gene shows association with disease course in oligoarticular juvenile idiopathic arthritis

Por Marciano, R, Giacopelli, F, Divizia, M T, Gattorno, M, Felici, E, Pistorio, A, Martini, A, Ravazzolo, R, Picco, P
Publicado em 2006

Single nucleotide polymorphic alleles in the 5' region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease

Por Sancandi, M, Griseri, P, Pesce, B, Patrone, G, Puppo, F, Lerone, M, Martucciello, G, Romeo, G, Ravazzolo, R, Devoto, M, Ceccherini, I
Publicado em 2003

PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilati...

Por Matera, I, Bachetti, T, Puppo, F, Di, D, Morandi, F, Casiraghi, G, Cilio, M, Hennekam, R, Hofstra, R, Schober, J, Ravazzolo, R, Ottonello, G, Ceccherini, I
Publicado em 2004

OR7-006 – Autophagy as a player in inflammation in TRAPS

Por Bachetti, T, Chiesa, S, Castagnola, P, Bani, D, Di Zanni, E, Omenetti, A, D'Osualdo, A, Fraldi, A, Ballabio, A, Ravazzolo, R, Martini, A, Gattorno, M, Ceccherini, I
Publicado em 2013

Mutations in MTMR13, a New Pseudophosphatase Homologue of MTMR2 and Sbf1, in Two Families with an Autosomal Recessive Demyelinating Form of Charcot-Marie-Tooth Disease Associated w...

Por Azzedine, H., Bolino, A., Taïeb, T., Birouk, N., Di Duca, M., Bouhouche, A., Benamou, S., Mrabet, A., Hammadouche, T., Chkili, T., Gouider, R., Ravazzolo, R., Brice, A., Laporte, J., LeGuern, E.
Publicado em 2003

A Next Generation Sequencing approach to the mutational screening of patients affected with systemic autoinflammatory disorders: diagnosis improvement and interpretation of complex...

Por Rusmini, M, Federici, S, Caroli, F, Grossi, A, Baldi, M, Obici, L, Insalaco, A, Tommasini, A, Caorsi, R, Gallo, E, Olivieri, AN, Marzano, AV, Coviello, D, Ravazzolo, R, Martini, A, Gattorno, M, Ceccherini, I
Publicado no Pediatr Rheumatol Online J (2015)